Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ESRP2 contributors: mct - updated : 27-04-2018
HGNC name epithelial splicing regulatory protein 2
HGNC id 26152
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies paralog to ESRP1
Homologene
FAMILY
CATEGORY
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus,nucleoplasm
basic FUNCTION
  • ESRP1 and ESRP2 are coordinators of an epithelial cell-type-specific splicing program
  • ESRP1 and ESRP2 are cell-type-specific regulators of transcripts that switch splicing during the epithelial-mesenchymal transition (EMT)
  • regulator of epithelial mRNA splicing
  • ESRP1 and ESRP2 regulate alternative splicing events associated with epithelial phenotypes of cells, and both are down-regulated during the epithelial-mesenchymal transition
  • ESRP1 and ESRP2 are required for mammalian development, including establishment of epidermal barrier functions
  • ESRP1 and ESRP2 control the epithelial-to-mesenchymal transition (EMT) splicing program in cancer
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ablation of ESRP1 and ESRP2 impairs epithelial tight junction (TJ) integrity through loss of the epithelial isoform of Rho GTP exchange factor ARHGEF11
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    of ESRP1 and ESRP2 is thus closely associated with a motile phenotype of cancer cells
    tumoral     --over  
    in primary prostate cancer
    Susceptibility to Non-Syndromic Cleft Lip with or without Cleft Palate (NS-CL/P)
    Variant & Polymorphism other
  • pathogenic variants identified in PLEKHA5 in cases of NS-CL/P
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS